scholarly journals Gender Differences in Clinical Manifestations of Brugada Syndrome

2008 ◽  
Vol 52 (19) ◽  
pp. 1567-1573 ◽  
Author(s):  
Begoña Benito ◽  
Andrea Sarkozy ◽  
Lluis Mont ◽  
Stephan Henkens ◽  
Antonio Berruezo ◽  
...  
2021 ◽  
Vol 22 (11) ◽  
pp. 5808
Author(s):  
Annalisa Giandalia ◽  
Alfio Edoardo Giuffrida ◽  
Guido Gembillo ◽  
Domenico Cucinotta ◽  
Giovanni Squadrito ◽  
...  

Diabetic kidney disease (DKD) is one of the most serious complications of both type 1 (T1DM) and type 2 diabetes mellitus (T2DM). Current guidelines recommend a personalized approach in order to reduce the burden of DM and its complications. Recognizing sex and gender- differences in medicine is considered one of the first steps toward personalized medicine, but the gender issue in DM has been scarcely explored so far. Gender differences have been reported in the incidence and the prevalence of DKD, in its phenotypes and clinical manifestations, as well as in several risk factors, with a different impact in the two genders. Hormonal factors, especially estrogen loss, play a significant role in explaining these differences. Additionally, the impact of sex chromosomes as well as the influence of gene–sex interactions with several susceptibility genes for DKD have been investigated. In spite of the increasing evidence that sex and gender should be included in the evaluation of DKD, several open issues remain uncovered, including the potentially different effects of newly recommended drugs, such as SGLT2i and GLP1Ras. This narrative review explored current evidence on sex/gender differences in DKD, taking into account hormonal, genetic and clinical factors.


2015 ◽  
Vol 191 ◽  
pp. 90-96 ◽  
Author(s):  
Sophie C.H. Van Malderen ◽  
Dirk Kerkhove ◽  
Dominic A.M.J. Theuns ◽  
Caroline Weytjens ◽  
Steven Droogmans ◽  
...  

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Hiroya Matsumura ◽  
Yukiko Nakano ◽  
Masaaki Toshishige ◽  
Hidenori Ochi ◽  
Takehito Tokuyama ◽  
...  

BACKGROUND: The common SCN5A polymorphism H558R has been reported as a genetic modulator that improves sodium channel activity in mutated channels by repairing abnormal channel gating kinetics and membrane trafficking. We investigated the possible effects of H558R on the clinical manifestations of Brugada syndrome. METHODS: The study population comprised 95 Brugada syndrome patients (mean age 42 ± 14 years, 91 males and 4 females) and 1,875 normal controls. H558R was genotyped by TaqMan assay in all subjects. The SCN5A gene mutation was screened by resequencing. We evaluated the PR, QRS, and QTc intervals from lead II and the J-point amplitude from leads V1 and V2 of a 12-lead electrocardiogram (ECG). We also evaluated signal-averaged ECG and electrophysiological parameters. RESULTS: H558R was less frequent in patients with Brugada syndrome than normal controls (4.7% vs. 10.3%, P = 0.01). Surprisingly, H558R (minor allele A) was not observed in patients with Brugada syndrome without ventricular fibrillation (VF; n = 60), whereas 7.5% of patients with VF had H558R (n = 35). Nonsynonymous mutation of SCN5A was not detected in patients with H558R. The H558R carriers showed lower J-point elevation in lead V1 than noncarriers (1.8 ± 0.4 vs. 3.3 ± 0.3 mV, P = 0.04). Other parameters in the 12-lead and signal-averaged ECG were similar in patients with and without H558R. CONCLUSION: We demonstrated that the H558R polymorphism was a strong protective genetic modulator even in Brugada syndrome patients without SCN5A mutation.


Author(s):  
V. Probst ◽  
S. Pattier ◽  
J-J. Schott ◽  
H. Le Marec

Kardiologiia ◽  
2016 ◽  
Vol 10_2016 ◽  
pp. 63-71
Author(s):  
I.M. Miklashevich Miklashevich ◽  
M.A. Shkolnikova Shkolnikova ◽  

2014 ◽  
Vol 2014 ◽  
pp. 1-4
Author(s):  
Jasper J. Chen ◽  
Rajbir S. Sangha

Background. Brugada syndrome is rare and has been a clinically diagnosable entity since 1992. Its clinical manifestations are highly variable, and while some patients remain asymptomatic, others endure sudden cardiac death. Initial presenting symptoms may include palpitations, seizures, syncope, and nocturnal agonal respiration. The diagnosis of Brugada syndrome relies on both clinical findings and characteristic ECG patterns that occur spontaneously or are induced by usage of sodium-channel blocking agents.Aims of Case Report. Many psychiatrists may be unaware of the possibility of medical cocontributing etiologies to physical symptoms of anxiety and depression. We present a case of a patient who was treated psychiatrically for anxiety and panic attacks and who was subsequently diagnosed with Brugada syndrome and treated medically with an implantable cardioverter defibrillator (ICD), the only treatment option demonstrated to be effective. Her psychiatric symptoms predated her diagnosis of Brugada syndrome by at least fifteen years.Conclusion. The patient's eventual diagnosis of Brugada syndrome altered the course of her psychopharmacologic medication management and illustrates the utility of a psychosomatic approach to psychiatric symptom management.


2021 ◽  
Author(s):  
Jelena Mihailovic ◽  
Camillo Ribi ◽  
Carlo Chizzolini ◽  
Marten Trendelenburg ◽  
Johannes Von Kempis ◽  
...  

Abstract Background: Systemic lupus erythematosus (SLE) in males is rare and poorly understood. Thus, still little is known about gender differences in SLE. We set out to identify gender differences regarding clinical manifestations as well as renal and cardiovascular outcomes of SLE. Methods: We analyzed patient data from the Swiss SLE Cohort Study. Cumulative clinical manifestations according to the updated American College of Rheumatology criteria were recorded at inclusion. Cardiovascular events were recorded within Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SLICC-SDI). Renal failure was defined as eGFR<15 ml/min/1.73m2, initiation of renal replacement therapy or doubling of serum creatinine which were all assessed yearly or documented as end stage renal disease in SLICC-SDI. Risk differences were calculated using logistic regression and cox regression models.Results: We analyzed 93 men and 529 women with a median follow up time of 2 years. Males were significantly older at diagnosis (44.4 versus 33.1 years, p<0.001) and had less often arthritis (57% versus 74%, p=0.001) and dermatological disorders (61% versus 76%, p<0.01). In multivariate analysis female gender remained a significantly associated with arthritis and dermatological disorders. After adjusting for age, disease duration, ethnicity, time to diagnosis, medication and eGFR and SELENA SLEDAI at inclusion men had a significantly higher hazard ratio of 2.5 for renal failure (95% confidence interval (95%-CI) 1.1-6.0, p<0.04). Total SLICC-SDI Score was comparable. Men had significantly more coronary artery disease (CAD) (17% versus 4%, p<0.001) and myocardial infarction (10% versus 2%, p<0.01). In multivariate analysis, male gender remained a significant risk factor for CAD (odds ratio (OR) 5.6, 95%-CI 2.3-13.7, p<0.001) and myocardial infarction (OR 8.3, 95%-CI 2.1-32.6, p=0.002).Conclusion: This first gender study in a western European population demonstrates significant gender differences in SLE. Male gender is an independent risk factor for cardiovascular events and renal failure in SLE. Potential etiological pathomechanisms such as hormonal or X-chromosomal factors remain to be further investigated.


2020 ◽  
Vol 2020 ◽  
pp. 1-12
Author(s):  
Chaojie Yu ◽  
Chong Liu ◽  
Jie Jiang ◽  
Hao Li ◽  
Jiarui Chen ◽  
...  

Introduction. Rheumatoid arthritis (RA) is a chronic inflammatory disease characterized by symmetrical peripheral polyarthritis. A large number of studies have shown that RA is characterized by gender differences in clinical manifestations. The purpose of this study is to identify the key molecules of gender differences in patients with RA and to provide new molecular targets for personalized therapy. Material and Methods. The data from GSE55457 were downloaded from the comprehensive gene expression comprehensive database, and two groups (RA vs. No-RA groups, Male-RA vs. Female-RA groups) of differentially expressed genes (EDGs) were obtained by GEO2R. The GO function and KEGG pathway analyses of DEGs were carried out through the plug-in ClueGO in Cytoscape. Based on the STRING online, a protein-protein interaction (PPI) network was constructed. Hub genes were selected from CytoHubba. Through the intersection of the top 10 hub genes in two sets of EDGs, the key genes and related KEGG pathways were found. Quantitative Real-Time PCR and Western blotting analysis were performed for verification. Results. 1230 DEGs were screened between RA and No-RA groups, and 306 DEGs were screened between male and female RA groups. The common key gene of the two groups is IL-4. Between RA group and No-RA group, interleukin-4 (IL-4) participates in cytokine-cytokine receptor interaction, Th1 and Th2 cell differentiation, Th17 cell differentiation, T cell receptor signaling pathway, etc. Conclusion. This study contributes to the molecular biological mechanism of gender differences in RA. IL-4 may have played an important role.


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